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Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson's disease and dementia with Lewy bodies. In the current study, we aimed to evaluate the role of SMPD1 variants in isolated rapid eye movement sleep behavior disorder (iRBD). SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1287 controls from European descent. Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.

Original publication




Journal article


Neurobiol Aging

Publication Date





142.e5 - 142.e7


Association study, REM sleep behavior disorder, Sphingomyelin phosphodiesterase 1, Female, Genetic Association Studies, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Male, Negative Results, Sleep Wake Disorders, Sleep, REM, Sphingomyelin Phosphodiesterase